NM_001378778.1:c.4469del

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HGVS Expressions

  • NG_042810.1:g.157797del
  • NM_001378778.1:c.4469del
  • NP_001365707.1:p.Gln1490ArgfsTer19
  • NC_000009.12:g.13126768del

Associated Genes

Multiple PDZ Domain Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

781251438

Clinvar

548147

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615219.6.1Palestine2PathogenicHydrocephalus, congenital, 2, with or without brain or eye anomalies Shaheen et al. 2017
615219.6.2Palestine1Shaheen et al. 2017 Father of 615219.6.1
615219.6.3Palestine1Shaheen et al. 2017 Moither of 615219.6.1
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Contributors

  • Sayeeda Hana: 10.10.2022

Edit History

  • Sayeeda Hana: 10.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.